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Human Disease

nemaline myopathy 11

Term ID
DOID:0110933
Synonyms
  • NEM11
  • nemaline myopathy 11, autosomal recessive
Definition
A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. https://www.ncbi.nlm.nih.gov/pubmed/28017374
References
Ontology
Human Disease   ( DOID:0110933 )
Relationships
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Genes Involved
Zebrafish Models
Citations